Canonical Allele Identifier: CA383031893

Gene: TECTA TBCEL-TECTA

Linked Data

• MyVariant Identifiers: chr11:g.121032930T>G (hg19) ; chr11:g.121162221T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162221T>G , CM000673.2:g.121162221T>G	GRCh38
NC_000011.9:g.121032930T>G , CM000673.1:g.121032930T>G	GRCh37
NC_000011.8:g.120538140T>G	NCBI36
NG_011633.1:g.64556T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5123T>G (TECTA) MANE Select	ENSP00000376543.1:p.Leu1708Arg
ENST00000642222.1:c.5108T>G (TECTA)	ENSP00000493855.1:p.Leu1703Arg
ENST00000645008.1:c.2415T>G (TECTA)
ENST00000646278.1:n.1044T>G (TECTA)
ENST00000264037.2:c.5123T>G (TECTA)	ENSP00000264037.2:p.Leu1708Arg
ENST00000392793.5:c.5123T>G (TECTA)	ENSP00000376543.1:p.Leu1708Arg
NM_005422.2:c.5123T>G (TECTA)	NP_005413.2:p.Leu1708Arg
NM_001378761.1:c.6065T>G (TBCEL-TECTA)	NP_001365690.1:p.Leu2022Arg
NM_005422.4:c.5123T>G (TECTA) MANE Select	NP_005413.2:p.Leu1708Arg